Gsα mutations in fibrous dysplasia and McCune-Albright syndrome

Journal of Bone and Mineral Research

Volumn 22, Issue SUPPL. 2, 2007, Pages

  Weinstein, Lee S ^a  

^a NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

Author keywords

Bone marrow stromal cell; cAMP; Fibrous dysplasia; G protein; McCune Albright syndrome

Indexed keywords

CYCLIC AMP; GONADOTROPIN; GUANINE NUCLEOTIDE BINDING PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; GUANOSINE TRIPHOSPHATASE; HORMONE RECEPTOR; HYPOPHYSIS HORMONE; INTERMEDIN; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ACROMEGALY; ALBRIGHT SYNDROME; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BONE MARROW CELL; CAFE AU LAIT SPOT; CELL DIFFERENTIATION; CELL PROLIFERATION; CLINICAL FEATURE; ENDOCRINE TUMOR; ENZYME ACTIVITY; FIBROUS DYSPLASIA; GENE EXPRESSION; GENE MUTATION; GENOME IMPRINTING; HORMONAL REGULATION; HUMAN; HYPERPIGMENTATION; HYPOPHYSIS TUMOR; MESENCHYME CELL; MOSAICISM; OSTEOBLAST; PRECOCIOUS PUBERTY; RECEPTOR UPREGULATION; SKIN PIGMENTATION; SOMATIC MUTATION; STEM CELL; STROMA CELL; GENETICS; METABOLISM; MUTATION; REVIEW;

CYCLIC AMP; ENDOCRINE GLAND NEOPLASMS; FIBROUS DYSPLASIA OF BONE; FIBROUS DYSPLASIA, POLYOSTOTIC; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; MUTATION;

EID: 34247844681     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/JBMR.06S223     Document Type: Article

References (66)

1. Weinstein LS 2002 Other skeletal diseases resulting from G protein defects-fibrous dysplasia and McCune-Albright syndrome. In: Bilezikian JP, Raisz LG, Rodan GA (eds.) Principles of Bone Biology, 2nd ed. Academic Press, San Diego. CA, USA, pp. 1165-1176.
2. Yamamoto T, Okada S, Kishimoto T, Yamaoka K, Michigami T, Matsumoto S, Takagi M, Hiroshima K, Yoh K, Kasayama S, Ozono K 1996 Increased IL-6-production by cells isolated from the fibrous bone dysplasia tissues in patients with McCune-Albright syndrome. J Clin Invest 98:30-35.
3. Riminucci M, Fisher LW, Shenker A, Spiegel AM, Bianco P, Robey PG 1997 Fibrous dysplasia of bone in the McCune-Albright syndrome: Abnormalities in bone formation. Am J Pathol 151:1587-1600.
4. McCune DJ 1936 Osteitis fibrosa cystica; the case of a nine year old girl who also exhibits precocious puberty, multiple pigmentation of the skin and hyperthyroidism. Am J Dis Child 52:743-744.
5. Albright F, Butler AM, Hampton AO, Smith P1937 Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females. N Engl J Med 216:727-746.
6. Giovanelli G, Bernasconi S, Banchini G 1978 McCune-Albright syndrome in a male child: A clinical and endocrinologic enigma. J Pediatr 92:220-226.
7. sα gene mutation: An unusual expression of McCune-Albright syndrome in a prepubertal boy. J Clin Endocrinol Metab 86:1778-1781.
8. Riminucci M, Collins MT, Fedarko NS, Cherman N, Corsi A, White KE, Waguespack S, Gupta A, Hannon T, Econs MJ, Bianco P, Robey PG 2003 FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J Clin Invest 112:683-692.
9. 5. J Pediatr 123:509-518.
10. Happle R 1986 The McCune-Albright syndrome: A lethal gene surviving by mosaicism. Clin Genet 29:321-324.
11. Reitzik M, Lownie JF 1975 Familial polyostotic fibrous dysplasia. Oral Surg 40:769-774.
12. Hibbs RE, Rush HP 1952 Albright's syndrome. Ann Intern Med 37:587-593.
13. Sarkar AK, Ghosh AK, Chowdhury SN, Biswas SK, Bag SK 1993 Fibrous dysplasia in two siblings. Indian J Pediatr 60:301-305.
14. s and stimulate adenylyl cyclase in human pituitary tumours. Nature 340:692-696.
15. iα1 and the mechanism of GTP hydrolysis. Science 265:1405-1412.
16. -. Nature 372:276-279.
17. sα. J Biol Chem 264:15475-15482.
18. Lyons J, Landis CA, Harsh G, Vallar L, Grünewald K, Feichtinger H, Dun Q-Y, Clark OH, Kawasaki E, Bourne HR, McCormick F 1990 Two G protein oncogenes in human endocrine tumors. Science 249:655-659.
19. Yang I, Park S, Ryu M, Woo J, Kim S, Kim J, Kim Y, Choi Y 1996 Characteristics of gsp-positive growth hormone-secreting pituitary tumors in Korean acromegalic patients. Eur J Endocrinol 134:720-726.
20. s α-gene in nonfunctioning pituitary tumors. J Clin Endocrinol Metab 77:765-769.
21. Williamson EA, Daniels M, Foster S, Kelly WF, Kendall-Taylor P, Harris PE 1994 Gsα and Gi2α mutations in clinically non-functioning pituitary tumours. Clin Endocrinol (Oxf) 41:815-820.
22. Williamson EA, Ince PG, Harrison D, Kendall-Taylor P, Harris PE 1995 G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas. Eur J Clin Invest 25:128-131.
23. Williamson EA, Johnson SJ, Foster S, Kendall-Taylor P, Harris PE 1995 G protein gene mutations in patients with multiple endocrinopathies. J Clin Endocrinol Metab 80:1702-1705.
24. O'Sullivan C, Barton CM, Staddon SL, Brown CL, Lemoine NR 1991 Activating point mutations of the gsp oncogene in human thyroid adenomas. Mol Carcinog 4:345-349.
25. Suarez HG, du Villard JA, Caillou B, Schlumberger M, Parmentier C, Monier R 1991 gsp mutations in human thyroid tumours. Oncogene 6:677-679.
26. Esapa C, Foster S, Johnson S, Jameson JL, Kendall-Taylor P, Harris PE 1997 G protein and thyrotropin receptor mutations in thyroid neoplasia. J Clin Endocrinol Metab 82:493-496.
27. sα subunit gene in human endocrine tumors: Mutation detection by polymerase chain reaction-primer-introduced restriction analysis. Cancer 72:1386-1393.
28. Fragoso MC, Domenice S, Latronico AC, Martin RM, Pereira MA, Zerbini MC, Lucon AM, Mendonica BB 2003 Cushing's syndrome secondary to adrenocorticotropin- independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. J Clin Endocrinol Metab 88:2147-2151.
29. Roman R, Johnson MC, Codner E, Boric MA, Avila A, Cassorla F 2004 Activating GNAS1 gene mutations in patients with premature thelarche. J Pediatr 145:218-222.
30. sα activating mutations. J Pediatr Endocrinol Metab 15(Suppl 3):891-895.
31. Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM 1991 Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 325:1688-1695.
32. Schwindinger WF, Francomano CA, Levine MA 1992 Identification of a mutation in the gene encoding the α subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci USA 89:5152-5156.
33. s α-subunit from a bone lesion. J Clin Endocrinol Metab 78:803-806.
34. sα mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome. J Clin Endocrinol Metab 79:750-755.
35. sα gene. Hum Mol Genet 4:1675-1676.
36. Alman BA, Wolfe HJ, Greel DA 1996 Activating mutations of Gs protein in monostotic fibrous lesions of bone. J Orthop Res 14:311-315.
37. Bianco P, Riminucci M, Majolagbe A, Kuznetsov SA, Collins MT, Mankani MH, Corsi A, Bone HG, Wientroub S, Spiegel AM, Fisher LW, Robey PG 2000 Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone. J Bone Miner Res 15:120-128.
38. Kim I, Kim ER, Nam HJ, Chin MO, Moon YH, Oh MR, Yeo UC, Song SM, Kim JS, Uhm MR, Beck NS, Jin DK 1999 Activating mutation of Gsα in McCune-Albright syndrome causes skin pigmentation by tyrosinase gene activation on affected melanocytes. Horm Res 52:235-240.
39. Silva ES, Lumbroso S, Medina M, Gillerot Y, Sultan C, Sokal EM 2000 Demonstration of McCune-Albright mutations in the liver of children with high γGT progressive cholestasis. J Hepatol 32:154-158.
40. Okamoto S, Hisaoka M, Ushijima M, Nakahara S, Toyoshima S, Hashimoto H 2000 Activating Gsα mutation in intramuscular myxomas with and without fibrous dysplasia of bone. Virchows Arch 437:133-137.
41. Candeliere GA, Glorieux FH, Roughley PJ 1997 Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in Gas from patients with fibrous dysplasia of bone. Bone 21:201-206.
42. Riminucci M, Fisher LW, Majolagbe A, Corsi A, Lala R, de Sanctis C, Robey PG, Bianco P 1999 A novel GNAS1 mutation, R201G, in McCune-Albright syndrome. J Bone Miner Res 14:1987-1989.
43. Lumbroso S, Paris F, Sultan C, Group ECS 2004 Activating Gsa mutations: Analysis of 113 patients with signs of McCune-Albright syndrome-a European Collaborative Study. J Clin Endocrinol Metab 89:2107-2113.
44. Lietman SA, Ding C, Levine MA 2005 A highly sensitive polymerase chain reaction method detects activating mutations of the GNAS gene in peripheral blood cells in McCune-Albright syndrome or isolated fibrous dysplasia. J Bone Joint Surg Am 87:2489-2494.
45. Karadag A, Riminucci M, Bianco P, Cherman N, Kuznetsov SA, Nguyen N, Collins MT, Robey PG, Fisher LW 2004 A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune-Albright syndrome. Nucleic Acids Res 32:e63.
46. Mockridge KA, Levine MA, Reed LA, Post E, Kaplan FS, Jan de Beur SM, Deng Z, Ding C, Howard C, Schnur RE 1999 Polyendocrinopathy, skeletal dysplasia, organomegaly. and distinctive facies associated with a novel, widely expressed Gsα mutation. Am J Hum Genet 65(Suppl):A426.
47. Cho JY, Schnur RE, Levine MA, Jan de Beur SM 2003 Reduced stimulatory activity of R201L GNAS1 mutation explains germ-line expression in atypical McCune Albright syndrome. Program and Abstracts of the Endocrine Society's 85th Annual Meeting. Philadelphia, PA, USA, June 19-22, 2003.
48. Weinstein LS, Liu J, Sakamoto A, Xie T, Chen M 2004 Minireview: GNAS: Normal and abnormal functions. Endocrinology 145:5459-5464.
49. sα gene GNAS1 in the pathogenesis of acromegaly. J Clin Invest 107:R31-R36.
50. sα mutations in McCune-Albright syndrome and in isolated endocrine tumors. J Clin Endocrinol Metab 89:3007-3009.
51. Zung A, Chalew SA, Schwindinger WF, Levine MA, Phillip M, Jara A, Counts DR, Kowarski AA 1995 Urinary cyclic adenosine 3′,5′-monophosphate response in McCune-Albright syndrome: Clinical evidence for altered renal adenylate cyclase activity. J Clin Endocrinol Metab 80:3576-3581.
52. Marie PJ, Lomri A, Chanson P, de Pollak C 1997 Increased proliferation of osteoblastic cells expressing the activating Gsα mutation in monostotic and polyostotic fibrous dysplasia. Am J Pathol 150:1059-1069.
53. Weinstein LS 2004 GNAS and McCune-Albright syndrome/fibrous dysplasia, Albright hereditary osteodystrophy/pseudohypoparathyroidism type 1A, progressive osseous heteroplasia, and pseudohypoparathyroidism type 1B. In: Epstein CJ, Erickson RP, Wynshaw-Boris A (eds.) Molecular Basis of Inborn Errors of Development, 1st ed. Oxford University Press, San Francisco, CA, USA, pp. 849-866.
54. i or Gβγ in adult mouse cardiomyocytes. J Biol Chem 275:40635-40640.
55. Yamazaki T, Komuro I, Zou Y, Kudoh S, Mizuno T, Hiroi Y, Shiojima I, Takano H, Kinugawa K, Kohmoto O, Takahashi T, Yazaki Y 1997 Protein kinase A and protein kinase C synergistically activate the Raf-1 kinase/mitogen-activated protein kinase cascade in neonatal rat cardiomyocytes. J Mol Cell Cardiol 29:2491-2501.
56. Yamazaki T, Komuro I, Zou Y, Kudoh S, Shiojima I, Hiroi Y, Aikawa R, Takano H, Yazaki Y 1997 Norepinephrine induces the raf-1 kinase/mitogen- activated protein kinase cascade through both α1- and β- adrenoreceptors. Circulation 95:1260-1268.
57. Bianco P, Robey PG 1999 Diseases of bone and the stromal cell lineage. J Bone Miner Res 14:336-341.
58. Bellows CG, Ishida H, Aubin JE, Heersche JNM 1990 Parathyroid hormone reversibly suppresses the differentiation of osteoprogenitor cells into functional osteoblasts. Endocrinology 127:3111-3116.
59. Turksen K, Grigoriadis AE, Heersche JNM, Aubin JE 1990 Forskolin has biphasic effects on osteoprogenitor cell differentiation in vitro. J Cell Physiol 142:61-69.
60. Bianco P, Kuznetsov SA, Riminucci M, Fisher LW, Spiegel AM, Robey PG 1998 Reproduction of human fibrous dysplasia of bone in immunocompromised mice by transplanted mosaics of normal and Gsα-mutated skeletal progenitor cells. J Clin Invest 101:1737-1744.
61. Gaiddon C, Boutillier A-L, Monnier D, Mercken L, Loeffler J-P 1994 Genomic effects of the putative oncogene Gas: Chronic transcriptional activation of the c-fos proto-oncogene in endocrine cells. J Biol Chem 269:22663-22671.
62. Candeliere GA, Glorieux FH, Prud'homme J, St.-Arnaud R 1995 Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia. N Engl J Med 332:1546-1551.
63. Sassone-Corsi P 1995 Signaling pathways and c-fos transcriptional response-links to inherited diseases. N Engl J Med 332:1576-1.577.
64. Rüther U, Garber C, Komitowski D, Müller R, Wagner EF 1987 Deregulated c-fos expression interferes with normal bone development in transgenic mice. Nature 325:412-416.
65. Stein GS, Lian JB 1993 Molecular mechanisms mediating proliferation/differentiation interrelationships during progressive development of the osteoblast phenotype. Endocr Rev 14:424-442.
66. Motomura T, Kasayama S, Takagi M, Kurebayashi S, Matsui H, Hirose T, Miyashita Y, Yamauchi-Takihara K, Yamamoto T, Okada S, Kishimoto T 1998 Increased interleukin-6 production in mouse osteoblastic MC3T3-E1 cells expressing activating mutant of the stimulatory G protein. J Bone Miner Res 13:1084-1091.